Association of GABRA6 1519 T&gt;C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy

Prasad, D Krishna; Shaheen, Uzma; Satyanarayana, Uppala; Prabha, T. Surya; Jyothy, A.; Munshi, Anjana

doi:10.1016/j.eplepsyres.2014.07.001

Cited by 24 publications

(18 citation statements)

References 35 publications

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“…GABRA6 is a member of the GABA-A receptor gene family of heteromeric pentameric ligand-gated ion channels through which GABA, the major inhibitory neurotransmitter in the mammalian brain, acts. GABRA6 mutations have been shown to be related to the childhood absence epilepsy in a previous study and polymorphisms in this gene were important risk factors for the development of the idiopathic generalized epilepsy [32,33]. As far as we know, we have identified the first GABRA6 mutation in a BFIE family.…”

Section: Discussionmentioning

confidence: 74%

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort

et al. 2017

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Benign familial epilepsies that present themselves in the first year of life include benign familial neonatal epilepsy (BFNE), benign familial neonatal-infantile epilepsy (BFNIE) and benign familial infantile epilepsy (BFIE). We used Sanger sequencing and targeted next-generation sequencing to detect gene mutations in a Chinese cohort of patients with these three disorders. A total of 79 families were collected, including 4 BFNE, 7 BFNIE, and 68 BFIE. Genetic testing led to the identification of gene mutations in 60 families (60 out of 79, 75.9%). A total of 42 families had PRRT2 mutations, 9 had KCNQ2 mutations, 8 had SCN2A mutations, and 1 had a GABRA6 mutation. In total three of four BFNE families were detected with KCNQ2 mutations. Mutations were detected in all BFNIE families, including 3 KCNQ2 mutations, 3 SCN2A mutations, and 1 PRRT2 mutation. Gene mutations were identified in 50 out of 68 BFIE families (73.5%), including 41 PRRT2 mutations (41 out of 68, 60.3%), 5 SCN2A mutations, 3 KCNQ2 mutations, and 1 GABRA6 mutation. Our results confirmed that mutations in KCNQ2, SCN2A, and PRRT2 are major genetic causes of benign familial epilepsy in the first year of life in the Chinese population. KCNQ2 is the major gene related to BFNE. PRRT2 is the main gene responsible for BFIE.

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Section: Discussionmentioning

confidence: 74%

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort

et al. 2017

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“…Sequence variants of unknown significance in GABRB2 could possibly contribute to intellectual disability and epilepsy (Srivastava et al, 2014). An association with autism has been reported for SNPs in GABRA4 and an association with generalized epilepsy has been suggested for GABRA6 (Ma et al, Prasad et al, 2014). Associations with alcohol dependence have been reported for SNPs in GABRA2 and GABRA6 (Li et al, 2014).…”

Section: Known Consequences Of Genetic Variation In the Gabaergic Systemmentioning

confidence: 94%

The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders

Braat

Kooy

2015

Neuron

257

214

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Intellectual disability, autism spectrum disorder, and epilepsy are prime examples of neurodevelopmental disorders that collectively affect a significant percentage of the world population. Recent technological breakthroughs allowed the elucidation of the genetic causes of many of these disorders. As neurodevelopmental disorders are genetically heterogeneous, the development of rational therapy is extremely challenging. Fortunately, many causative genes are interconnected and cluster in specific cellular pathways. Targeting a common node in such a network would allow us to interfere with a series of related neurodevelopmental disorders at once. Here, we argue that the GABAergic system is disturbed in many neurodevelopmental disorders, including fragile X syndrome, Rett syndrome, and Dravet syndrome, and is a key candidate target for therapeutic intervention. Many drugs that modulate the GABAergic system have already been tested in animal models with encouraging outcomes and are readily available for clinical trials.

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“…In a large study of 2717 adults with epilepsy and 1118 controls that investigated the potential contribution of common variants across 279 candidate genes, SNPs of SYN2 were associated with epilepsy with a history of febrile seizures (Cavalleri et al, 2007). Prasad et al (2014) also reported differences in the genotypic distribution of SYN2 A>G polymorphisms between individuals with GGE and controls. Mutations of SYN2 (one nonsense and two missense) have been associated with increased risk of ASD (Corradi et al, 2014).…”

Section: Disrupted Neurotransmission: Channelopathies Neurotransmittmentioning

confidence: 99%

Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder

Richard

Scheffer

Wilson

2017

Neuroscience & Biobehavioral Reviews

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Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy

Cited by 24 publications

References 35 publications

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort

The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders

Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder

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